V128A (p.Val128Ala) variant of NRXN2 (Neurexin-2)
V128A (p.Val128Ala) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V128A (p.Val128Ala) variant details
- p.Val128Ala
- TOPMed rs2057127713
- gnomAD rs2057127713
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.80
- MetaLR 0.76
- MetaSVM 0.64
- CADD 28.10
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available